Altered sequence of the ETS1 transcription factor may predispose to rheumatoid arthritis susceptibility

Abstract

Objective: ETS1 belongs to the ETS family of transcription factors that regulate the expression of various immune-related genes. The aim of this study was to identify whether the ETS1 single nucleotide polymorphism (SNP) rs11221332, described in Caucasian subjects, plays a role in rheumatoid arthritis (RA) susceptibility.

Methods: We genotyped this polymorphism in 136 unrelated patients with RA and 147 healthy individuals with no history of autoimmune disease. Genotyping was performed with a polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) assay and the data were analysed using SPSS statistical software.

Results: A statistically significant difference was observed in the distribution of the rs11221332 genotypes between RA patients and controls (p = 0.041). Comparing the distribution of rs11221332 alleles between the groups studied, a greater difference was found [odds ratio (OR) 1.504, 95% confidence interval (CI) 1.036–2.183; p = 0.039].

Conclusions: The present study revealed, for first time, the positive association of a polymorphism in the sequence of the ETS1 transcription factor with RA susceptibility. Further studies in other ethnic groups of patients are needed to confirm the results of the present genetic association study related to ETS1, a widely used transcription factor in the regulation of the expression of various genes.

Acknowledgements

This work was partially funded by the European Commission project POCEMON (point-of-care monitoring and diagnostics for autoimmune diseases) FP7-ICT-2007-216088.